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NM_080424.2:c.642del
Home
NM_080424.2:c.642del
HGVS Expressions
NG_008295.1:g.12741del
NM_080424.2:c.642del
NP_536349.2:p.Ser215AlafsTer14
NC_000002.12:g.230212374del
Associated Genes
Nuclear Body Protein SP110
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
397515361
Clinvar
5537
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
235550.1.1
Lebanon
2
NA
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Roscioli et al. 2006
Patient 'A II.1' in the publication
235550.1.2
Lebanon
1
NA
Roscioli et al. 2006
Father of 235550.1.1
235550.1.3
Lebanon
1
NA
Roscioli et al. 2006
Mother of 235550.1.1
235550.2.1
Lebanon
2
NA
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Roscioli et al. 2006
Patient 'B II.1' in the publication
235550.2.2
Lebanon
2
NA
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Roscioli et al. 2006
Patient 'B II.2' in the publication, sis...
235550.2.3
Lebanon
1
NA
Roscioli et al. 2006
Father of 235550.2.1
235550.2.4
Lebanon
1
NA
Roscioli et al. 2006
Mother of 235550.2.1
235550.3.1
Lebanon
2
NA
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Roscioli et al. 2006
Patient 'C II.1' in the publication
235550.3.2
Lebanon
1
NA
Roscioli et al. 2006
Father of 235550.3.1
235550.3.3
Lebanon
1
NA
Roscioli et al. 2006
Mother of 235550.3.1
235550.4
Lebanon
2
NA
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Roscioli et al. 2006
Patient 'D II.1' in the publication
235550.7
Lebanon
2
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Cliffe et al. 2012
235550.8
Lebanon
2
Pathogenic
Hepatic Venoocclusive Disease with Immunodeficiency
Cliffe et al. 2012
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Contributors
Edit History
Pratibha Nair: 12.10.2022
Asha Deepthi: 08.03.2021
Sayeeda Hana: 17.09.2020
Pratibha Nair: 01.07.2020
Asha Deepthi: 03.01.2019
Asha Deepthi: 09.12.2018
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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